Content tagged 'testing'

Newborns are routinely screened at birth for a variety of diseases, but tests results can sometimes take up to two weeks. For some conditions that are quickly treatable time isn't as critical, but 10 to 14 days for other test results might mean the difference between life and death.

And there are thousand of genetic diseases that newborns are not tested for, that if known about early, could help doctors provide quicker and better care.

Scientists have found a way to decode babies' DNA in just days instead of weeks.

In a small but significant study, researchers at Children's Mercy Hospital in Kansas City, Missouri mapped the DNA of five children. While the study couldn't be completed in time to save the children, the results were very promising.

By year's end the hospital plans to begin routine gene mapping in its neonatal intensive care unit. It may also offer testing for babies elsewhere, while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy.

"For the first time, we can actually deliver genome information in time to make a difference," predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine.

Even if the diagnosis is a lethal disease, "the family will at least have an answer. They won't have false hope," he added.

The idea is to combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses.

More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. There are thousands of these diseases, and most hospitals don't have the means

Less than a decade after the first human genome was sequenced at a cost of hundreds of millions of dollars, whole-genome sequencing is poised to become a useful and affordable diagnostic tool, experts say.